geneid | 343068 |
---|---|
ensemblid | ENSG00000270601.5 |
hgncid | 27995 |
symbol | PRAMEF5 |
name | PRAME family member 5 |
refseq_nuc | NM_001013407.5 |
refseq_prot | NP_001013425.2 |
ensembl_nuc | ENST00000622421.3 |
ensembl_prot | ENSP00000480122.1 |
mane_status | MANE Select |
chr | chr1 |
start | 13254198 |
end | 13263435 |
strand | + |
ver | v1.2 |
region | chr1:13254198-13263435 |
region5000 | chr1:13249198-13268435 |
regionname0 | PRAMEF5_chr1_13254198_13263435 |
regionname5000 | PRAMEF5_chr1_13249198_13268435 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 476 | 36 | 5 | 7 | 18 | 2 | 4 | 16 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0002 | 0/0 | 476 | 32 | 2 | 11 | 15 | 1 | 3 | 11 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003 | 0/0 | 476 | 20 | 0 | 2 | 16 | 0 | 2 | 12 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0004 | 0/0 | 476 | 10 | 2 | 0 | 8 | 0 | 0 | 7 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0005 | 0/0 | 476 | 9 | 1 | 2 | 4 | 1 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0006 | 0/0 | 476 | 6 | 0 | 2 | 4 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0007 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0008 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009 | 0/0 | 476 | 4 | 1 | 0 | 2 | 0 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0010 | 0/0 | 476 | 4 | 0 | 0 | 3 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0011 | 0/0 | 476 | 3 | 0 | 0 | 0 | 1 | 2 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0012 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0013 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0014 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0015 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0016 | 0/0 | 476 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0017 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0018 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0019 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0020 | 0/0 | 427 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0021 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1431 | 36 | 5 | 7 | 18 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0002 | 0/0 | 1431 | 32 | 2 | 11 | 15 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0003 | 0/0 | 1431 | 17 | 0 | 2 | 13 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0004 | 0/0 | 1431 | 9 | 1 | 2 | 4 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0005 | 0/0 | 1431 | 9 | 1 | 0 | 8 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0006 | 0/0 | 1431 | 6 | 0 | 2 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0007 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0008 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0009 | 0/0 | 1431 | 4 | 0 | 0 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0010 | 0/0 | 1431 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0011 | 0/0 | 1431 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0012 | 0/0 | 1431 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0013 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0014 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0015 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0016 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0017 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0018 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0019 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0020 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0021 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0022 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0023 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0024 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
c0025 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 425 | 44 | 8 | 7 | 21 | 3 | 5 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0002 | 0/0 | 425 | 37 | 2 | 12 | 19 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0003 | 0/0 | 425 | 19 | 0 | 2 | 15 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0004 | 0/0 | 425 | 16 | 1 | 4 | 9 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0005 | 0/0 | 425 | 11 | 1 | 0 | 10 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0006 | 0/0 | 425 | 5 | 0 | 1 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0007 | 0/0 | 425 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0008 | 0/0 | 425 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0009 | 0/0 | 425 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0010 | 0/0 | 425 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
t0011 | 0/0 | 425 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 18 | 1 | 2 | 9 | 3 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0002 | 0/0 | 13 | 0 | 2 | 10 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0003 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0004 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0005 | 0/0 | 5 | 0 | 2 | 2 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0006 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0008 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0009 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0010 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0016 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0017 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1431 | 36 | 5 | 7 | 18 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0002c0002 | 0/0 | 1431 | 32 | 2 | 11 | 15 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0003 | 0/0 | 1431 | 17 | 0 | 2 | 13 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0012 | 0/0 | 1431 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0013 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0004c0005 | 0/0 | 1431 | 9 | 1 | 0 | 8 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0004c0022 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0005c0004 | 0/0 | 1431 | 9 | 1 | 2 | 4 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0006c0006 | 0/0 | 1431 | 6 | 0 | 2 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0007c0008 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0008c0007 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009c0010 | 0/0 | 1431 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009c0017 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0010c0009 | 0/0 | 1431 | 4 | 0 | 0 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0011c0011 | 0/0 | 1431 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0012c0025 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0013c0024 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0014c0023 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0015c0014 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0016c0019 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0017c0018 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0018c0016 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0019c0020 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0020c0021 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0021c0015 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1855 | 36 | 5 | 7 | 18 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0002c0002t0002 | 0/0 | 1855 | 32 | 2 | 11 | 15 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0003t0001 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0003t0003 | 0/0 | 1855 | 16 | 0 | 2 | 12 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0012t0003 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0003c0013t0003 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0004c0005t0005 | 0/0 | 1855 | 9 | 1 | 0 | 8 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0004c0022t0008 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0005c0004t0004 | 0/0 | 1855 | 9 | 1 | 2 | 4 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0006c0006t0004 | 0/0 | 1855 | 6 | 0 | 2 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0007c0008t0002 | 0/0 | 1855 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0007c0008t0011 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0008c0007t0005 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0008c0007t0009 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009c0010t0001 | 0/0 | 1855 | 2 | 1 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009c0010t0010 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0009c0017t0001 | 0/0 | 1855 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0010c0009t0006 | 0/0 | 1855 | 4 | 0 | 0 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0011c0011t0007 | 0/0 | 1855 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0012c0025t0001 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0013c0024t0002 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0014c0023t0002 | 0/0 | 1855 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0015c0014t0006 | 0/0 | 1855 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0016c0019t0001 | 0/0 | 1855 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0017c0018t0010 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0018c0016t0001 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0019c0020t0001 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0020c0021t0004 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
a0021c0015t0008 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | copy fasta | chr1 | 13249198 | 13268435 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 16 | 1 | 2 | 8 | 2 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0004 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0006 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0008 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0009 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0010 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0002c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0003g0002 | 0/0 | 12 | 0 | 2 | 9 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0003t0003g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0012t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0012t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0003c0013t0003g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0005t0005g0003 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0005t0005g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0005t0005g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0005t0005g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0005t0005g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0004c0022t0008g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0005c0004t0004g0005 | 0/0 | 5 | 0 | 2 | 2 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0005c0004t0004g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0005c0004t0004g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0005c0004t0004g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0005c0004t0004g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0006c0006t0004g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0007c0008t0002g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0007c0008t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0007c0008t0011g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0008c0007t0005g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0008c0007t0009g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0008c0007t0009g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0009c0010t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0009c0010t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0009c0010t0010g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0009c0017t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0010c0009t0006g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0010c0009t0006g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0010c0009t0006g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0010c0009t0006g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0011c0011t0007g0016 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0011c0011t0007g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0012c0025t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0013c0024t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0014c0023t0002g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0015c0014t0006g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0016c0019t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0017c0018t0010g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0018c0016t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0019c0020t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0020c0021t0004g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
a0021c0015t0008g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0011 | c0011 | t0007 | g0049 | EUR | GBR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00140 | hp2 | a0016 | c0019 | t0001 | g0001 | EUR | GBR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00438 | hp1 | a0007 | c0008 | t0002 | g0064 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00438 | hp2 | a0002 | c0002 | t0002 | g0054 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00558 | hp1 | a0003 | c0003 | t0003 | g0019 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00558 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00597 | hp1 | a0010 | c0009 | t0006 | g0082 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00597 | hp2 | a0005 | c0004 | t0004 | g0005 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00609 | hp1 | a0002 | c0002 | t0002 | g0061 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00609 | hp2 | a0004 | c0005 | t0005 | g0025 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00621 | hp2 | a0006 | c0006 | t0004 | g0031 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00733 | hp1 | a0002 | c0002 | t0002 | g0062 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00733 | hp2 | a0002 | c0002 | t0002 | g0009 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00738 | hp1 | a0002 | c0002 | t0002 | g0051 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG00738 | hp2 | a0005 | c0004 | t0004 | g0005 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01069 | hp2 | a0014 | c0023 | t0002 | g0058 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01099 | hp2 | a0002 | c0002 | t0002 | g0008 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01106 | hp1 | a0005 | c0004 | t0004 | g0005 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01106 | hp2 | a0015 | c0014 | t0006 | g0084 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01168 | hp2 | a0006 | c0006 | t0004 | g0030 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0042 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01175 | hp2 | a0002 | c0002 | t0002 | g0009 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01257 | hp2 | a0002 | c0002 | t0002 | g0009 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01346 | hp1 | a0002 | c0002 | t0002 | g0008 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01346 | hp2 | a0002 | c0002 | t0002 | g0063 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01361 | hp1 | a0002 | c0002 | t0002 | g0075 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01515 | hp2 | a0005 | c0004 | t0004 | g0005 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01517 | hp2 | a0002 | c0002 | t0002 | g0073 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01934 | hp1 | a0003 | c0003 | t0003 | g0002 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01934 | hp2 | a0002 | c0002 | t0002 | g0068 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01978 | hp1 | a0003 | c0003 | t0003 | g0002 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02027 | hp1 | a0006 | c0006 | t0004 | g0047 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02027 | hp2 | a0002 | c0002 | t0002 | g0065 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02056 | hp1 | a0019 | c0020 | t0001 | g0001 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02056 | hp2 | a0003 | c0013 | t0003 | g0002 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02129 | hp1 | a0005 | c0004 | t0004 | g0005 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02129 | hp2 | a0009 | c0010 | t0001 | g0040 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02132 | hp1 | a0005 | c0004 | t0004 | g0078 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02132 | hp2 | a0002 | c0002 | t0002 | g0072 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02135 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02258 | hp1 | a0009 | c0010 | t0001 | g0038 | AFR | ACB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02258 | hp2 | a0002 | c0002 | t0002 | g0070 | AFR | ACB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02293 | hp1 | a0006 | c0006 | t0004 | g0027 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02293 | hp2 | a0002 | c0002 | t0002 | g0066 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02523 | hp1 | a0006 | c0006 | t0004 | g0014 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02523 | hp2 | a0005 | c0004 | t0004 | g0076 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02738 | hp1 | a0002 | c0002 | t0002 | g0010 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02738 | hp2 | a0005 | c0004 | t0004 | g0077 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02896 | hp1 | a0012 | c0025 | t0001 | g0032 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG02970 | hp2 | a0004 | c0022 | t0008 | g0018 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03139 | hp1 | a0021 | c0015 | t0008 | g0048 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03516 | hp1 | a0004 | c0005 | t0005 | g0023 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0036 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03540 | hp1 | a0018 | c0016 | t0001 | g0045 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03540 | hp2 | a0002 | c0002 | t0002 | g0017 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03669 | hp1 | a0010 | c0009 | t0006 | g0083 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03669 | hp2 | a0011 | c0011 | t0007 | g0016 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03704 | hp2 | a0002 | c0002 | t0002 | g0067 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03831 | hp1 | a0003 | c0003 | t0003 | g0002 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG03834 | hp2 | a0002 | c0002 | t0002 | g0008 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG04184 | hp1 | a0011 | c0011 | t0007 | g0016 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG04204 | hp1 | a0009 | c0017 | t0001 | g0039 | SAS | STU | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
HG04204 | hp2 | a0003 | c0003 | t0003 | g0022 | SAS | STU | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18943 | hp1 | a0002 | c0002 | t0002 | g0050 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18943 | hp2 | a0007 | c0008 | t0011 | g0010 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18949 | hp2 | a0002 | c0002 | t0002 | g0010 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18953 | hp1 | a0004 | c0005 | t0005 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18957 | hp1 | a0003 | c0003 | t0003 | g0021 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18959 | hp1 | a0008 | c0007 | t0009 | g0056 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18968 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18971 | hp1 | a0008 | c0007 | t0009 | g0057 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18971 | hp2 | a0004 | c0005 | t0005 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18973 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18974 | hp1 | a0007 | c0008 | t0002 | g0007 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18974 | hp2 | a0008 | c0007 | t0005 | g0012 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18975 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18976 | hp1 | a0009 | c0010 | t0010 | g0015 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18976 | hp2 | a0004 | c0005 | t0005 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18983 | hp1 | a0002 | c0002 | t0002 | g0060 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18983 | hp2 | a0013 | c0024 | t0002 | g0017 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18987 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18987 | hp2 | a0003 | c0003 | t0003 | g0011 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18988 | hp1 | a0004 | c0005 | t0005 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18988 | hp2 | a0017 | c0018 | t0010 | g0015 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18990 | hp1 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18998 | hp1 | a0002 | c0002 | t0002 | g0069 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA18998 | hp2 | a0003 | c0012 | t0003 | g0011 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19002 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19003 | hp2 | a0002 | c0002 | t0002 | g0053 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19004 | hp1 | a0002 | c0002 | t0002 | g0059 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19004 | hp2 | a0002 | c0002 | t0002 | g0071 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19059 | hp1 | a0008 | c0007 | t0005 | g0012 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19059 | hp2 | a0007 | c0008 | t0002 | g0007 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19060 | hp2 | a0006 | c0006 | t0004 | g0028 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19062 | hp1 | a0004 | c0005 | t0005 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19062 | hp2 | a0002 | c0002 | t0002 | g0007 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19065 | hp1 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19066 | hp1 | a0003 | c0003 | t0001 | g0034 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19076 | hp1 | a0020 | c0021 | t0004 | g0014 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19076 | hp2 | a0002 | c0002 | t0002 | g0074 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19079 | hp1 | a0002 | c0002 | t0002 | g0052 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19079 | hp2 | a0004 | c0005 | t0005 | g0026 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19080 | hp2 | a0003 | c0012 | t0003 | g0020 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19082 | hp2 | a0003 | c0003 | t0003 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19089 | hp1 | a0010 | c0009 | t0006 | g0080 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19089 | hp2 | a0010 | c0009 | t0006 | g0081 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19090 | hp1 | a0004 | c0005 | t0005 | g0024 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA19090 | hp2 | a0002 | c0002 | t0002 | g0055 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA20300 | hp1 | a0005 | c0004 | t0004 | g0079 | AFR | USA | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | USA | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:13259273
|
G | A | 1 | a0003 | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
missense_variant | MODERATE | c.5G>A | p.Ser2Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 105/1855 | 5/1431 | 2/476 | chr1 | 13259273 | ||
chr1:13259315
|
G | A | 1 | a0005 | 9 | HG00597.hp2 HG00738.hp2 HG01106.hp1 others(6): Show |
missense_variant | MODERATE | c.47G>A | p.Ser16Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 147/1855 | 47/1431 | 16/476 | chr1 | 13259315 | ||
chr1:13259330
|
A | C | 1 | a0012 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.62A>C | p.Gln21Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 162/1855 | 62/1431 | 21/476 | chr1 | 13259330 | ||
chr1:13259339
|
C | A | 1 | a0021 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.71C>A | p.Ala24Asp | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 171/1855 | 71/1431 | 24/476 | chr1 | 13259339 | ||
chr1:13259389
|
A | C | 9 | a0002a0003a0004others(6): Show | 74 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(71): Show |
missense_variant | MODERATE | c.121A>C | p.Met41Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 221/1855 | 121/1431 | 41/476 | chr1 | 13259389 | ||
chr1:13259414
|
G | A | 1 | a0015 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.146G>A | p.Cys49Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 246/1855 | 146/1431 | 49/476 | chr1 | 13259414 | ||
chr1:13259452
|
C | T | 2 | a0013a0021 | 2 | HG03139.hp1 NA18983.hp2 |
missense_variant | MODERATE | c.184C>T | p.Arg62Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 284/1855 | 184/1431 | 62/476 | chr1 | 13259452 | ||
chr1:13259541
|
A | T | 1 | a0015 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.273A>T | p.Gln91His | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 373/1855 | 273/1431 | 91/476 | chr1 | 13259541 | ||
chr1:13259549
|
A | G | 2 | a0010a0015 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.281A>G | p.His94Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 381/1855 | 281/1431 | 94/476 | chr1 | 13259549 | ||
chr1:13260299
|
A | G | 6 | a0005a0006a0010others(3): Show | 22 | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(19): Show |
missense_variant | MODERATE | c.365A>G | p.His122Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 465/1855 | 365/1431 | 122/476 | chr1 | 13260299 | ||
chr1:13260332
|
A | C | 5 | a0005a0006a0014others(2): Show | 18 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(15): Show |
missense_variant | MODERATE | c.398A>C | p.Lys133Thr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 498/1855 | 398/1431 | 133/476 | chr1 | 13260332 | ||
chr1:13260365
|
A | G | 8 | a0002a0003a0004others(5): Show | 73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
missense_variant | MODERATE | c.431A>G | p.Gln144Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 531/1855 | 431/1431 | 144/476 | chr1 | 13260365 | ||
chr1:13260421
|
T | C | 3 | a0010a0011a0015 | 8 | HG00140.hp1 HG00597.hp1 HG01106.hp2 others(5): Show |
missense_variant | MODERATE | c.487T>C | p.Tyr163His | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 587/1855 | 487/1431 | 163/476 | chr1 | 13260421 | ||
chr1:13260431
|
G | A | 8 | a0002a0003a0004others(5): Show | 73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
missense_variant | MODERATE | c.497G>A | p.Cys166Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 597/1855 | 497/1431 | 166/476 | chr1 | 13260431 | ||
chr1:13260471
|
C | G | 1 | a0019 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.537C>G | p.His179Gln | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 637/1855 | 537/1431 | 179/476 | chr1 | 13260471 | ||
chr1:13260583
|
G | A | 1 | a0021 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.649G>A | p.Val217Ile | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 749/1855 | 649/1431 | 217/476 | chr1 | 13260583 | ||
chr1:13260736
|
T | C | 2 | a0010a0015 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.802T>C | p.Cys268Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 902/1855 | 802/1431 | 268/476 | chr1 | 13260736 | ||
chr1:13260736
|
T | G | 1 | a0018 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.802T>G | p.Cys268Gly | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 902/1855 | 802/1431 | 268/476 | chr1 | 13260736 | ||
chr1:13260755
|
C | A | 2 | a0010a0015 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.821C>A | p.Ser274Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 921/1855 | 821/1431 | 274/476 | chr1 | 13260755 | ||
chr1:13260778
|
G | A | 1 | a0021 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.844G>A | p.Glu282Lys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 944/1855 | 844/1431 | 282/476 | chr1 | 13260778 | ||
chr1:13260802
|
A | G | 1 | a0015 | 1 | HG01106.hp2 | missense_variant&splice_region_variant | MODERATE | c.868A>G | p.Ser290Gly | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 968/1855 | 868/1431 | 290/476 | chr1 | 13260802 | ||
chr1:13262711
|
T | C | 5 | a0002a0007a0008others(2): Show | 42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
missense_variant | MODERATE | c.1031T>C | p.Leu344Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1131/1855 | 1031/1431 | 344/476 | chr1 | 13262711 | ||
chr1:13262806
|
C | T | 1 | a0016 | 1 | HG00140.hp2 | missense_variant | MODERATE | c.1126C>T | p.Arg376Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1226/1855 | 1126/1431 | 376/476 | chr1 | 13262806 | ||
chr1:13262852
|
C | G | 1 | a0007 | 4 | HG00438.hp1 NA18943.hp2 NA18974.hp1 others(1): Show |
missense_variant | MODERATE | c.1172C>G | p.Ser391Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1272/1855 | 1172/1431 | 391/476 | chr1 | 13262852 | ||
chr1:13262908
|
G | C | 2 | a0010a0015 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.1228G>C | p.Val410Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1328/1855 | 1228/1431 | 410/476 | chr1 | 13262908 | ||
chr1:13262927
|
C | T | 4 | a0002a0007a0013others(1): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
missense_variant | MODERATE | c.1247C>T | p.Pro416Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1347/1855 | 1247/1431 | 416/476 | chr1 | 13262927 | ||
chr1:13262963
|
G | A | 1 | a0020 | 1 | NA19076.hp1 | stop_gained | HIGH | c.1283G>A | p.Trp428* | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1383/1855 | 1283/1431 | 428/476 | chr1 | 13262963 | ||
chr1:13262974
|
C | G | 17 | a0002a0003a0004others(14): Show | 103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
missense_variant | MODERATE | c.1294C>G | p.Pro432Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1394/1855 | 1294/1431 | 432/476 | chr1 | 13262974 | ||
chr1:13263000
|
G | C | 1 | a0017 | 1 | NA18988.hp2 | missense_variant | MODERATE | c.1320G>C | p.Lys440Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1420/1855 | 1320/1431 | 440/476 | chr1 | 13263000 | ||
chr1:13263050
|
G | A | 2 | a0010a0015 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.1370G>A | p.Cys457Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1470/1855 | 1370/1431 | 457/476 | chr1 | 13263050 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:13259307
|
A | G | 1 | a0010c0009 | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
synonymous_variant | LOW | c.39A>G | p.Ala13Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 139/1855 | 39/1431 | 13/476 | chr1 | 13259307 | ||
chr1:13259334
|
C | T | 1 | a0003c0013 | 1 | HG02056.hp2 | synonymous_variant | LOW | c.66C>T | p.Ala22Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 166/1855 | 66/1431 | 22/476 | chr1 | 13259334 | ||
chr1:13259337
|
G | A | 2 | a0010c0009a0015c0014 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
synonymous_variant | LOW | c.69G>A | p.Leu23Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 169/1855 | 69/1431 | 23/476 | chr1 | 13259337 | ||
chr1:13259523
|
G | T | 14 | a0002c0002a0003c0003a0003c0012others(11): Show | 81 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(78): Show |
synonymous_variant | LOW | c.255G>T | p.Leu85Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 355/1855 | 255/1431 | 85/476 | chr1 | 13259523 | ||
chr1:13260384
|
C | T | 1 | a0003c0012 | 2 | NA18998.hp2 NA19080.hp2 |
synonymous_variant | LOW | c.450C>T | p.Phe150Phe | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 550/1855 | 450/1431 | 150/476 | chr1 | 13260384 | ||
chr1:13262622
|
A | C | 1 | a0004c0022 | 1 | HG02970.hp2 | synonymous_variant | LOW | c.942A>C | p.Leu314Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1042/1855 | 942/1431 | 314/476 | chr1 | 13262622 | ||
chr1:13262634
|
G | A | 1 | a0009c0017 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.954G>A | p.Pro318Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1054/1855 | 954/1431 | 318/476 | chr1 | 13262634 | ||
chr1:13263006
|
G | T | 4 | a0002c0002a0007c0008a0013c0024others(1): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
synonymous_variant | LOW | c.1326G>T | p.Val442Val | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1426/1855 | 1326/1431 | 442/476 | chr1 | 13263006 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:13254223
|
C | T | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-75C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | 5046 | chr1 | 13254223 | |||||
chr1:13254228
|
T | C | 10 | a0002c0002t0002a0003c0003t0003a0003c0012t0003others(7): Show | 60 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(57): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-70T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | chr1 | 13254228 | ||||||
chr1:13254244
|
A | T | 6 | a0002c0002t0002a0007c0008t0002a0007c0008t0011others(3): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
5_prime_UTR_variant | MODIFIER | c.-54A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | 5025 | chr1 | 13254244 | |||||
chr1:13259262
|
C | A | 8 | a0002c0002t0002a0004c0022t0008a0007c0008t0002others(5): Show | 42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
5_prime_UTR_variant | MODIFIER | c.-7C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 7 | chr1 | 13259262 | |||||
chr1:13259263
|
G | A | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-6G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | chr1 | 13259263 | ||||||
chr1:13263194
|
T | A | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*83T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 83 | chr1 | 13263194 | |||||
chr1:13263214
|
A | G | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*103A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 103 | chr1 | 13263214 | |||||
chr1:13263246
|
A | G | 4 | a0005c0004t0004a0006c0006t0004a0008c0007t0009others(1): Show | 18 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*135A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 135 | chr1 | 13263246 | |||||
chr1:13263265
|
C | T | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*154C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 154 | chr1 | 13263265 | |||||
chr1:13263268
|
G | T | 2 | a0009c0010t0010a0017c0018t0010 | 2 | NA18976.hp1 NA18988.hp2 |
3_prime_UTR_variant | MODIFIER | c.*157G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 157 | chr1 | 13263268 | |||||
chr1:13263273
|
G | T | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*162G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 162 | chr1 | 13263273 | |||||
chr1:13263274
|
G | C | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*163G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 163 | chr1 | 13263274 | |||||
chr1:13263342
|
T | C | 2 | a0010c0009t0006a0015c0014t0006 | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*231T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 231 | chr1 | 13263342 | |||||
chr1:13263348
|
G | A | 2 | a0004c0005t0005a0008c0007t0005 | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*237G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 237 | chr1 | 13263348 | |||||
chr1:13263373
|
T | A | 5 | a0005c0004t0004a0006c0006t0004a0008c0007t0009others(2): Show | 21 | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*262T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 262 | chr1 | 13263373 | |||||
chr1:13263391
|
G | C | 7 | a0005c0004t0004a0006c0006t0004a0008c0007t0009others(4): Show | 26 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*280G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 280 | chr1 | 13263391 | |||||
chr1:13263395
|
C | G | 5 | a0005c0004t0004a0006c0006t0004a0008c0007t0009others(2): Show | 21 | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*284C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 284 | chr1 | 13263395 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:13254281
|
C | T | 44 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(41): Show | 54 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(51): Show |
splice_region_variant&intron_variant | LOW | c.-23+6C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254281 | ||||||
chr1:13254334
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+59A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254334 | ||||||
chr1:13254345
|
G | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+70G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254345 | ||||||
chr1:13254354
|
G | A | 1 | a0004c0022t0008g0018 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-23+79G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254354 | ||||||
chr1:13254378
|
C | CT | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+113dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254378 | |||||
chr1:13254407
|
C | CT | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+134dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254407 | |||||
chr1:13254414
|
G | T | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-23+139G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254414 | ||||||
chr1:13254489
|
G | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+214G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254489 | ||||||
chr1:13254511
|
T | C | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+236T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254511 | ||||||
chr1:13254583
|
G | A | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+308G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254583 | ||||||
chr1:13254596
|
A | T | 1 | a0011c0011t0007g0049 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-23+321A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254596 | ||||||
chr1:13254597
|
G | A | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-23+322G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254597 | ||||||
chr1:13254614
|
G | GT | 7 | a0002c0002t0002g0074a0002c0002t0002g0075a0004c0022t0008g0018others(4): Show | 7 | HG01361.hp1 HG02027.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+352dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254614 | |||||
chr1:13254614
|
GT | G | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-23+352delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254614 | |||||
chr1:13254688
|
A | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+413A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254688 | ||||||
chr1:13254709
|
C | T | 6 | a0004c0022t0008g0018a0010c0009t0006g0080a0010c0009t0006g0081others(3): Show | 6 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+434C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254709 | ||||||
chr1:13254710
|
G | A | 1 | a0001c0001t0001g0013 | 2 | HG01069.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.-23+435G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254710 | ||||||
chr1:13254724
|
C | T | 25 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(22): Show | 48 | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.-23+449C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254724 | ||||||
chr1:13254840
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+565C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254840 | ||||||
chr1:13254878
|
CCCAAAGT others(2153): Show |
C | 2 | a0002c0002t0002g0072a0002c0002t0002g0073 | 2 | HG01517.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.-23+660_-22-2153de others(1): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254878 | |||||
chr1:13254903
|
G | A | 1 | a0002c0002t0002g0050 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-23+628G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254903 | ||||||
chr1:13254935
|
A | T | 51 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(48): Show | 73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
intron_variant | MODIFIER | c.-23+660A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254935 | ||||||
chr1:13254939
|
T | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+664T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254939 | ||||||
chr1:13254957
|
G | T | 10 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(7): Show | 21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+682G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254957 | ||||||
chr1:13254958
|
A | T | 10 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(7): Show | 21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+683A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254958 | ||||||
chr1:13254973
|
C | T | 3 | a0010c0009t0006g0081a0010c0009t0006g0082a0010c0009t0006g0083 | 3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.-23+698C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254973 | ||||||
chr1:13254975
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-23+700C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254975 | ||||||
chr1:13254977
|
G | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+702G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254977 | ||||||
chr1:13255093
|
A | T | 32 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(29): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+818A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255093 | ||||||
chr1:13255113
|
T | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+838T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255113 | ||||||
chr1:13255118
|
A | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+843A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255118 | ||||||
chr1:13255123
|
G | A | 1 | a0005c0004t0004g0076 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-23+848G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255123 | ||||||
chr1:13255127
|
C | G | 1 | a0002c0002t0002g0071 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-23+852C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255127 | ||||||
chr1:13255179
|
A | G | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-23+904A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255179 | ||||||
chr1:13255200
|
G | T | 7 | a0004c0022t0008g0018a0010c0009t0006g0080a0010c0009t0006g0081others(4): Show | 7 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+925G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255200 | ||||||
chr1:13255312
|
G | A | 2 | a0009c0010t0010g0015a0017c0018t0010g0015 | 2 | NA18976.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.-23+1037G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255312 | ||||||
chr1:13255336
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+1061C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255336 | ||||||
chr1:13255387
|
A | G | 1 | a0018c0016t0001g0045 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-23+1112A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255387 | ||||||
chr1:13255470
|
GTGGCCGA others(2137): Show |
G | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-23+1201_-22-1628d others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255470 | |||||
chr1:13255476
|
G | A | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1201G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255476 | ||||||
chr1:13255507
|
T | TTC | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1233_-23+1234i others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255507 | |||||
chr1:13255550
|
ATCTCACA others(2139): Show |
A | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1292_-22-1535d others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255550 | |||||
chr1:13255584
|
A | C | 42 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(39): Show | 59 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.-23+1309A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255584 | ||||||
chr1:13255594
|
ATTT | A | 48 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(45): Show | 70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+1321_-23+1323d others(5): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255594 | |||||
chr1:13255603
|
G | T | 1 | a0001c0001t0001g0044 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-23+1328G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255603 | ||||||
chr1:13255776
|
C | CT | 11 | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0042others(8): Show | 19 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.-23+1531dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(2): Show |
7 | a0002c0002t0002g0008a0002c0002t0002g0059a0002c0002t0002g0060others(4): Show | 9 | HG00609.hp1 HG01069.hp2 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.-23+1523_-23+1531d others(11): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(3): Show |
7 | a0002c0002t0002g0009a0002c0002t0002g0010a0002c0002t0002g0050others(4): Show | 10 | HG00733.hp1 HG00733.hp2 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.-23+1522_-23+1531d others(12): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(4): Show |
4 | a0002c0002t0002g0017a0002c0002t0002g0065a0007c0008t0002g0064others(1): Show | 4 | HG00438.hp1 HG02027.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-23+1521_-23+1531d others(13): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(5): Show |
1 | a0002c0002t0002g0066 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-23+1520_-23+1531d others(14): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(6): Show |
2 | a0002c0002t0002g0067a0002c0002t0002g0068 | 2 | HG01934.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.-23+1519_-23+1531d others(15): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
C | CTTTTTTT others(7): Show |
2 | a0002c0002t0002g0069a0002c0002t0002g0070 | 2 | HG02258.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.-23+1518_-23+1531d others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CT | C | 5 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0044others(2): Show | 8 | HG01069.hp1 HG01099.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.-23+1531delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTT | C | 8 | a0002c0002t0002g0052a0002c0002t0002g0053a0002c0002t0002g0054others(5): Show | 19 | HG00438.hp2 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+1529_-23+1531d others(5): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTTT | C | 9 | a0003c0003t0003g0011a0003c0003t0003g0021a0003c0012t0003g0011others(6): Show | 14 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(11): Show |
intron_variant | MODIFIER | c.-23+1528_-23+1531d others(6): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTTTTTT others(5): Show |
C | 1 | a0002c0002t0002g0051 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-23+1520_-23+1531d others(14): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTTTTTT others(6): Show |
C | 1 | a0005c0004t0004g0076 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-23+1519_-23+1531d others(15): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTTTTTT others(7): Show |
C | 1 | a0003c0012t0003g0020 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-23+1518_-23+1531d others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255776
|
CTTTTTTT others(9): Show |
C | 1 | a0003c0003t0003g0019 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-23+1516_-23+1531d others(18): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | |||||
chr1:13255779
|
T | TC | 2 | a0009c0010t0010g0015a0017c0018t0010g0015 | 2 | NA18976.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.-23+1504_-23+1505i others(3): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255779 | ||||||
chr1:13255927
|
G | A | 2 | a0006c0006t0004g0027a0006c0006t0004g0028 | 2 | HG02293.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.-23+1652G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255927 | ||||||
chr1:13255944
|
G | A | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-23+1669G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255944 | ||||||
chr1:13255962
|
A | G | 10 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(7): Show | 21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+1687A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255962 | ||||||
chr1:13256029
|
A | T | 48 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(45): Show | 70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+1754A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256029 | ||||||
chr1:13256112
|
A | C | 1 | a0002c0002t0002g0055 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.-23+1837A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256112 | ||||||
chr1:13256134
|
T | G | 32 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(29): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+1859T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256134 | ||||||
chr1:13256277
|
A | C | 12 | a0005c0004t0004g0005a0005c0004t0004g0076a0005c0004t0004g0077others(9): Show | 16 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.-23+2002A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256277 | ||||||
chr1:13256280
|
A | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+2005A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256280 | ||||||
chr1:13256316
|
T | C | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-23+2041T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256316 | ||||||
chr1:13256376
|
A | G | 48 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(45): Show | 70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+2101A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256376 | ||||||
chr1:13256401
|
G | C | 1 | a0004c0022t0008g0018 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-23+2126G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256401 | ||||||
chr1:13256403
|
A | T | 32 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(29): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2128A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256403 | ||||||
chr1:13256504
|
A | G | 32 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(29): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2229A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256504 | ||||||
chr1:13256511
|
A | G | 1 | a0002c0002t0002g0065 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.-23+2236A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256511 | ||||||
chr1:13256649
|
C | A | 1 | a0008c0007t0009g0057 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-23+2374C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256649 | ||||||
chr1:13256650
|
T | A | 1 | a0008c0007t0009g0057 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-23+2375T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256650 | ||||||
chr1:13256664
|
A | G | 1 | a0002c0002t0002g0063 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-23+2389A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256664 | ||||||
chr1:13256672
|
C | T | 1 | a0002c0002t0002g0063 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-23+2397C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256672 | ||||||
chr1:13256744
|
G | A | 32 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(29): Show | 38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2469G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256744 | ||||||
chr1:13256762
|
T | TCCTCTAC others(47): Show |
1 | a0002c0002t0002g0054 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-22-2482_-22-2429d others(56): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13256762 | |||||
chr1:13256775
|
GT | G | 7 | a0001c0001t0001g0033a0004c0005t0005g0003a0004c0005t0005g0023others(4): Show | 12 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22-2460delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13256775 | |||||
chr1:13256864
|
C | T | 7 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(4): Show | 18 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.-22-2383C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256864 | ||||||
chr1:13256942
|
G | C | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-2305G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256942 | ||||||
chr1:13257030
|
C | T | 10 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(7): Show | 21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-22-2217C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257030 | ||||||
chr1:13257035
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-2212C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257035 | ||||||
chr1:13257038
|
T | C | 11 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(8): Show | 22 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(19): Show |
intron_variant | MODIFIER | c.-22-2209T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257038 | ||||||
chr1:13257099
|
A | T | 44 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(41): Show | 61 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(58): Show |
intron_variant | MODIFIER | c.-22-2148A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257099 | ||||||
chr1:13257138
|
C | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-2109C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257138 | ||||||
chr1:13257149
|
T | G | 4 | a0004c0022t0008g0018a0011c0011t0007g0016a0011c0011t0007g0049others(1): Show | 5 | HG00140.hp1 HG02970.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-2098T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257149 | ||||||
chr1:13257222
|
C | T | 1 | a0003c0012t0003g0020 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-22-2025C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257222 | ||||||
chr1:13257236
|
A | G | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22-2011A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257236 | ||||||
chr1:13257265
|
C | G | 4 | a0009c0010t0001g0038a0009c0010t0001g0040a0009c0017t0001g0039others(1): Show | 4 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1982C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257265 | ||||||
chr1:13257288
|
T | C | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-1959T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257288 | ||||||
chr1:13257314
|
C | T | 1 | a0002c0002t0002g0050 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-22-1933C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257314 | ||||||
chr1:13257344
|
A | G | 50 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(47): Show | 72 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.-22-1903A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257344 | ||||||
chr1:13257419
|
C | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1828C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257419 | ||||||
chr1:13257433
|
A | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1814A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257433 | ||||||
chr1:13257572
|
C | T | 75 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(72): Show | 120 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.-22-1675C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257572 | ||||||
chr1:13257589
|
C | T | 50 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(47): Show | 72 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.-22-1658C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257589 | ||||||
chr1:13257637
|
G | A | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-1610G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257637 | ||||||
chr1:13257681
|
G | A | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-1566G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257681 | ||||||
chr1:13257696
|
G | A | 11 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(8): Show | 22 | HG00558.hp1 HG00558.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.-22-1551G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257696 | ||||||
chr1:13257737
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1510C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257737 | ||||||
chr1:13257740
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-1507A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257740 | ||||||
chr1:13257772
|
G | A | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1475G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257772 | ||||||
chr1:13257809
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1438A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257809 | ||||||
chr1:13257813
|
A | G | 1 | a0009c0010t0001g0040 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1434A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257813 | ||||||
chr1:13257902
|
GCT | G | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1338_-22-1337d others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13257902 | |||||
chr1:13257919
|
G | T | 1 | a0009c0010t0001g0040 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1328G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257919 | ||||||
chr1:13257922
|
C | G | 1 | a0009c0010t0001g0040 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1325C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257922 | ||||||
chr1:13257939
|
C | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1308C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257939 | ||||||
chr1:13258077
|
A | C | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1170A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258077 | ||||||
chr1:13258089
|
G | A | 1 | a0002c0002t0002g0071 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-22-1158G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258089 | ||||||
chr1:13258111
|
C | T | 1 | a0006c0006t0004g0031 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-22-1136C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258111 | ||||||
chr1:13258137
|
T | A | 36 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(33): Show | 42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22-1110T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258137 | ||||||
chr1:13258148
|
C | T | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1099C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258148 | ||||||
chr1:13258208
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1039C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258208 | ||||||
chr1:13258241
|
C | T | 3 | a0004c0005t0005g0025a0004c0005t0005g0026a0008c0007t0005g0012 | 4 | HG00609.hp2 NA18974.hp2 NA19059.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1006C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258241 | ||||||
chr1:13258317
|
A | T | 6 | a0004c0022t0008g0018a0010c0009t0006g0080a0010c0009t0006g0081others(3): Show | 6 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-930A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258317 | ||||||
chr1:13258322
|
T | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-925T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258322 | ||||||
chr1:13258363
|
C | G | 47 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(44): Show | 64 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.-22-884C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258363 | ||||||
chr1:13258448
|
T | C | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-799T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258448 | ||||||
chr1:13258471
|
A | T | 8 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(5): Show | 19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-776A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258471 | ||||||
chr1:13258479
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-768C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258479 | ||||||
chr1:13258504
|
TG | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-742delG | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258504 | ||||||
chr1:13258526
|
C | T | 1 | a0002c0002t0002g0061 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-22-721C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258526 | ||||||
chr1:13258550
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-697C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258550 | ||||||
chr1:13258579
|
G | A | 2 | a0006c0006t0004g0027a0006c0006t0004g0028 | 2 | HG02293.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.-22-668G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258579 | ||||||
chr1:13258593
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-654A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258593 | ||||||
chr1:13258604
|
A | AAG | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-640_-22-639dup others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258604 | |||||
chr1:13258653
|
T | G | 1 | a0002c0002t0002g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-22-594T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258653 | ||||||
chr1:13258692
|
G | A | 1 | a0004c0005t0005g0025 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-22-555G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258692 | ||||||
chr1:13258695
|
GGAAA | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-541_-22-538del others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258695 | |||||
chr1:13258728
|
C | G | 69 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(66): Show | 96 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(93): Show |
intron_variant | MODIFIER | c.-22-519C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258728 | ||||||
chr1:13258738
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-509A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258738 | ||||||
chr1:13258825
|
G | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-422G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258825 | ||||||
chr1:13258858
|
G | A | 9 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(6): Show | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.-22-389G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258858 | ||||||
chr1:13258870
|
G | C | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-377G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258870 | ||||||
chr1:13258873
|
C | T | 35 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(32): Show | 41 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(38): Show |
intron_variant | MODIFIER | c.-22-374C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258873 | ||||||
chr1:13258903
|
T | C | 56 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(53): Show | 78 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
intron_variant | MODIFIER | c.-22-344T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258903 | ||||||
chr1:13258923
|
G | A | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22-324G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258923 | ||||||
chr1:13258955
|
G | GT | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-291dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258955 | |||||
chr1:13259030
|
C | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-217C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259030 | ||||||
chr1:13259057
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-22-190C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259057 | ||||||
chr1:13259092
|
G | A | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-155G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259092 | ||||||
chr1:13259118
|
G | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-129G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259118 | ||||||
chr1:13259140
|
G | A | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-107G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259140 | ||||||
chr1:13259176
|
T | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-71T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259176 | ||||||
chr1:13259178
|
G | C | 9 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(6): Show | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.-22-69G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259178 | ||||||
chr1:13259188
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-59A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259188 | ||||||
chr1:13259198
|
G | A | 1 | a0004c0005t0005g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-22-49G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259198 | ||||||
chr1:13259205
|
G | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-42G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259205 | ||||||
chr1:13259227
|
C | T | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-20C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259227 | ||||||
chr1:13259580
|
G | C | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.287+25G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259580 | ||||||
chr1:13259584
|
A | G | 2 | a0005c0004t0004g0076a0005c0004t0004g0078 | 2 | HG02132.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.287+29A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259584 | ||||||
chr1:13259595
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+40A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259595 | ||||||
chr1:13259602
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+47C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259602 | ||||||
chr1:13259603
|
A | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+48A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259603 | ||||||
chr1:13259610
|
G | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+55G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259610 | ||||||
chr1:13259616
|
T | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+61T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259616 | ||||||
chr1:13259624
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+69C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259624 | ||||||
chr1:13259649
|
G | C | 49 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(46): Show | 71 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.287+94G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259649 | ||||||
chr1:13259655
|
G | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+100G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259655 | ||||||
chr1:13259726
|
T | G | 1 | a0014c0023t0002g0058 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.287+171T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259726 | ||||||
chr1:13259764
|
G | A | 1 | a0001c0001t0001g0042 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.287+209G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259764 | ||||||
chr1:13259821
|
A | C | 8 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(5): Show | 13 | HG00609.hp2 HG02970.hp2 HG03139.hp1 others(10): Show |
intron_variant | MODIFIER | c.287+266A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259821 | ||||||
chr1:13259838
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+283C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259838 | ||||||
chr1:13259888
|
A | C | 10 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(7): Show | 15 | HG00597.hp1 HG00609.hp2 HG03516.hp1 others(12): Show |
intron_variant | MODIFIER | c.287+333A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259888 | ||||||
chr1:13259895
|
A | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-327A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259895 | ||||||
chr1:13259907
|
G | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-315G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259907 | ||||||
chr1:13259911
|
T | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-311T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259911 | ||||||
chr1:13259921
|
T | C | 5 | a0003c0003t0001g0034a0009c0010t0001g0038a0009c0010t0001g0040others(2): Show | 5 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-301T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259921 | ||||||
chr1:13260000
|
C | T | 42 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(39): Show | 53 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(50): Show |
intron_variant | MODIFIER | c.288-222C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260000 | ||||||
chr1:13260018
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-204C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260018 | ||||||
chr1:13260027
|
C | T | 21 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(18): Show | 36 | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.288-195C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260027 | ||||||
chr1:13260041
|
G | T | 76 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(73): Show | 103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.288-181G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260041 | ||||||
chr1:13260079
|
C | T | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.288-143C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260079 | ||||||
chr1:13260082
|
G | A | 1 | a0001c0001t0001g0029 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.288-140G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260082 | ||||||
chr1:13260125
|
C | G | 7 | a0001c0001t0001g0041a0006c0006t0004g0027a0006c0006t0004g0028others(4): Show | 7 | HG00597.hp1 HG02293.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.288-97C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260125 | ||||||
chr1:13260128
|
G | C | 6 | a0004c0005t0005g0023a0005c0004t0004g0005a0005c0004t0004g0076others(3): Show | 10 | HG00597.hp2 HG00738.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.288-94G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260128 | ||||||
chr1:13260152
|
C | A | 58 | a0001c0001t0001g0041a0002c0002t0002g0007a0002c0002t0002g0008others(55): Show | 75 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(72): Show |
intron_variant | MODIFIER | c.288-70C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260152 | ||||||
chr1:13260154
|
C | G | 12 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(9): Show | 23 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(20): Show |
intron_variant | MODIFIER | c.288-68C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260154 | ||||||
chr1:13260199
|
T | G | 20 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(17): Show | 31 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(28): Show |
intron_variant | MODIFIER | c.288-23T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260199 | ||||||
chr1:13260220
|
A | T | 1 | a0021c0015t0008g0048 | 1 | HG03139.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.288-2A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260220 | ||||||
chr1:13260810
|
G | C | 6 | a0009c0010t0001g0038a0009c0010t0001g0040a0009c0010t0010g0015others(3): Show | 6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.869+7G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260810 | ||||||
chr1:13260823
|
T | G | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+20T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260823 | ||||||
chr1:13260831
|
C | T | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+28C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260831 | ||||||
chr1:13260838
|
C | T | 1 | a0004c0022t0008g0018 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.869+35C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260838 | ||||||
chr1:13260845
|
G | A | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+42G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260845 | ||||||
chr1:13260857
|
A | C | 13 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(10): Show | 24 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.869+54A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260857 | ||||||
chr1:13260861
|
G | A | 14 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(11): Show | 25 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(22): Show |
intron_variant | MODIFIER | c.869+58G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260861 | ||||||
chr1:13260929
|
G | A | 1 | a0001c0001t0001g0013 | 2 | HG01069.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.869+126G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260929 | ||||||
chr1:13260941
|
T | G | 1 | a0021c0015t0008g0048 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+138T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260941 | ||||||
chr1:13260944
|
C | T | 1 | a0004c0005t0005g0026 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.869+141C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260944 | ||||||
chr1:13261027
|
C | T | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+224C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261027 | ||||||
chr1:13261049
|
G | C | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.869+246G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261049 | ||||||
chr1:13261089
|
C | T | 2 | a0004c0022t0008g0018a0021c0015t0008g0048 | 2 | HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.869+286C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261089 | ||||||
chr1:13261097
|
T | C | 7 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(4): Show | 8 | HG00140.hp1 HG00597.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.869+294T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261097 | ||||||
chr1:13261115
|
T | C | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+312T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261115 | ||||||
chr1:13261129
|
C | T | 1 | a0001c0001t0001g0037 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.869+326C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261129 | ||||||
chr1:13261151
|
G | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+348G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261151 | ||||||
chr1:13261167
|
G | C | 6 | a0009c0010t0001g0038a0009c0010t0001g0040a0009c0010t0010g0015others(3): Show | 6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.869+364G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261167 | ||||||
chr1:13261179
|
C | T | 1 | a0021c0015t0008g0048 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+376C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261179 | ||||||
chr1:13261195
|
G | A | 1 | a0002c0002t0002g0059 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.869+392G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261195 | ||||||
chr1:13261227
|
A | C | 1 | a0002c0002t0002g0060 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.869+424A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261227 | ||||||
chr1:13261251
|
T | G | 1 | a0018c0016t0001g0045 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.869+448T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261251 | ||||||
chr1:13261272
|
A | C | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+469A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261272 | ||||||
chr1:13261283
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+480C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261283 | ||||||
chr1:13261300
|
T | G | 9 | a0003c0003t0003g0002a0003c0003t0003g0011a0003c0003t0003g0019others(6): Show | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.869+497T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261300 | ||||||
chr1:13261303
|
A | G | 2 | a0001c0001t0001g0036a0004c0005t0005g0023 | 2 | HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.869+500A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261303 | ||||||
chr1:13261322
|
C | G | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+519C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261322 | ||||||
chr1:13261322
|
C | T | 2 | a0004c0022t0008g0018a0021c0015t0008g0048 | 2 | HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.869+519C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261322 | ||||||
chr1:13261334
|
G | A | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+531G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261334 | ||||||
chr1:13261334
|
G | C | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+531G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261334 | ||||||
chr1:13261341
|
C | G | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+538C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261341 | ||||||
chr1:13261346
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+543C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261346 | ||||||
chr1:13261347
|
G | A | 9 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(6): Show | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.869+544G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261347 | ||||||
chr1:13261351
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+548C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261351 | ||||||
chr1:13261352
|
A | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+549A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261352 | ||||||
chr1:13261353
|
A | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+550A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261353 | ||||||
chr1:13261362
|
T | A | 1 | a0010c0009t0006g0081 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.869+559T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261362 | ||||||
chr1:13261378
|
T | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+575T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261378 | ||||||
chr1:13261396
|
C | T | 1 | a0012c0025t0001g0032 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.869+593C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261396 | ||||||
chr1:13261485
|
C | A | 1 | a0004c0022t0008g0018 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.869+682C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261485 | ||||||
chr1:13261524
|
T | C | 1 | a0021c0015t0008g0048 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+721T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261524 | ||||||
chr1:13261567
|
C | T | 1 | a0001c0001t0001g0035 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.869+764C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261567 | ||||||
chr1:13261600
|
T | G | 8 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(5): Show | 13 | HG00609.hp2 HG02258.hp1 HG02970.hp2 others(10): Show |
intron_variant | MODIFIER | c.869+797T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261600 | ||||||
chr1:13261605
|
T | C | 3 | a0011c0011t0007g0016a0011c0011t0007g0049a0015c0014t0006g0084 | 4 | HG00140.hp1 HG01106.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.869+802T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261605 | ||||||
chr1:13261620
|
G | A | 1 | a0003c0003t0001g0034 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.869+817G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261620 | ||||||
chr1:13261621
|
G | T | 1 | a0004c0005t0005g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.869+818G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261621 | ||||||
chr1:13261648
|
C | T | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.869+845C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261648 | ||||||
chr1:13261670
|
CT | C | 6 | a0004c0005t0005g0003a0004c0005t0005g0023a0004c0005t0005g0024others(3): Show | 11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.869+870delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13261670 | |||||
chr1:13261688
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-862C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261688 | ||||||
chr1:13261719
|
G | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-831G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261719 | ||||||
chr1:13261801
|
G | C | 3 | a0010c0009t0006g0081a0010c0009t0006g0082a0010c0009t0006g0083 | 3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.870-749G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261801 | ||||||
chr1:13261823
|
A | G | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.870-727A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261823 | ||||||
chr1:13261849
|
T | A | 2 | a0011c0011t0007g0016a0011c0011t0007g0049 | 3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.870-701T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261849 | ||||||
chr1:13261870
|
C | T | 34 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(31): Show | 40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.870-680C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261870 | ||||||
chr1:13261878
|
G | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-672G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261878 | ||||||
chr1:13261901
|
T | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-649T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261901 | ||||||
chr1:13261916
|
T | C | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-634T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261916 | ||||||
chr1:13261953
|
A | T | 1 | a0021c0015t0008g0048 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.870-597A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261953 | ||||||
chr1:13262035
|
G | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-515G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262035 | ||||||
chr1:13262058
|
AT | A | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-485delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262058 | |||||
chr1:13262069
|
C | CT | 20 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(17): Show | 35 | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(32): Show |
intron_variant | MODIFIER | c.870-471dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262069 | |||||
chr1:13262069
|
C | CTT | 6 | a0005c0004t0004g0079a0010c0009t0006g0080a0010c0009t0006g0081others(3): Show | 6 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.870-472_870-471dup others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262069 | |||||
chr1:13262164
|
C | T | 1 | a0015c0014t0006g0084 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.870-386C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262164 | ||||||
chr1:13262220
|
C | G | 2 | a0002c0002t0002g0053a0002c0002t0002g0054 | 2 | HG00438.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.870-330C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262220 | ||||||
chr1:13262250
|
G | C | 16 | a0003c0003t0001g0034a0003c0003t0003g0002a0003c0003t0003g0011others(13): Show | 32 | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.870-300G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262250 | ||||||
chr1:13262327
|
G | T | 25 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0010others(22): Show | 29 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.870-223G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262327 | ||||||
chr1:13262356
|
C | T | 6 | a0009c0010t0001g0038a0009c0010t0001g0040a0009c0010t0010g0015others(3): Show | 6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.870-194C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262356 | ||||||
chr1:13262359
|
G | C | 4 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(1): Show | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-191G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262359 | ||||||
chr1:13262360
|
C | T | 5 | a0010c0009t0006g0080a0010c0009t0006g0081a0010c0009t0006g0082others(2): Show | 5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-190C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262360 | ||||||
chr1:13262380
|
G | A | 1 | a0002c0002t0002g0062 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.870-170G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262380 | ||||||
chr1:13262389
|
G | A | 12 | a0005c0004t0004g0005a0005c0004t0004g0076a0005c0004t0004g0077others(9): Show | 16 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.870-161G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262389 | ||||||
chr1:13262410
|
T | G | 3 | a0010c0009t0006g0081a0010c0009t0006g0082a0010c0009t0006g0083 | 3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.870-140T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262410 | ||||||
chr1:13262413
|
A | G | 76 | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0009others(73): Show | 103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.870-137A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262413 |